Visualize Submit Comment
Metadata
ID DOID:0110610
Name primary ciliary dyskinesia 34
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13.
https://www.ncbi.nlm.nih.gov/pubmed/27486783
Xrefs

OMIM:617091

Synonyms

CILD34 [EXACT]

primary ciliary dyskinesia 34 without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

Add an item to the term tracker